Varaico: Literature-Extracted Genetic Variants

CDC42BPB

133 papers

RefSeq Summary

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this p...

Pfam Domains

Pkinaseaa 76–342UCSCProtein kinase domain

KELKaa 527–606UCSCKELK-motif containing domain of MRCK Ser/Thr protein kinase

DMPK_coilaa 878–939UCSCDMPK coiled coil domain like

C1_1aa 1026–1078UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PH_MRCKaa 1089–1215UCSCMRCK kinase PH domain

CNHaa 1250–1509UCSCCNH domain

Gene Aliases

HGNC Name

CDC42 binding protein kinase beta

HGNC Alias Symbols

MRCKB; KIAA1124

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006035.4

p.E486_I487delFs

c.1456_1459del4

Surrounding Variants

2 papers

NM_006035.4

p.E486fs

c.1456_1457fs

1 paper

NM_006035.4

p.E486fs

c.1456_1457fs

1 paper

NM_006035.4

p.I494V

c.1480A>G

1 paper

NM_006035.4

p.I494I

c.1482C>T

1 paper

NM_006035.4

p.R496C

c.1486C>T

1 paper

NM_006035.4

p.L478L

c.1434C>T

1 paper

NM_006035.4

p.Q466E

c.1396C>G

1 paper

NM_006035.4

p.R449S

c.1347G>T

1 paper

NM_006035.4

p.R449S

c.1347G>C

1 paper

NM_006035.4

p.E441D

c.1323A>T

1 paper

NM_006035.4

p.E441D

c.1323A>C

1 paper

NM_006035.4

p.R509*

c.1525C>T